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NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 19, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000365807.5

Allele description [Variation Report for NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)]

NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
HGVS:
  • NC_000017.11:g.42543794C>T
  • NG_011552.1:g.12862C>T
  • NM_000263.4:c.1788C>TMANE SELECT
  • NP_000254.2:p.Gly596=
  • NC_000017.10:g.40695812C>T
  • NM_000263.3:c.1788C>T
Links:
dbSNP: rs115166595
NCBI 1000 Genomes Browser:
rs115166595
Molecular consequence:
  • NM_000263.4:c.1788C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000331036Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Feb 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331036.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 20, 2024